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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Fig. 2

The pedigree and Sanger identification of the novel mutation. a The black-solid square represents the affected male patient. The black-shadow circle represents the female carrier. Unfilled squares and circles indicate normal males and females respectively. b The Sanger sequencing traces illustrated the NHS c.C4449G, p.Tyr1483Ter mutation in individualsI:2, II:2 and II:3 (hemizygous), and individuals II:5 and III:1 (homozygous)

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BMC Medical Genetics

ISSN: 1471-2350

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